British Heart_Journal, 1979, 41, 676-682

Uhl's anomaly R. J. VECHT, D. J. S. CARMICHAEL, R. GOPAL, AND G. PHILIP From the Departments of Cardiology and Pathology, St Mary's Hospital, London

suMMARY Uhl's anomaly of the heart is a rare condition. Another well-documented case is presented with a review of the published reports outlining the main clinical features and the bad overall prognosis. Right atriotomy should be avoided if closure of the atrial septal defect is attempted.

In 1952, Uhl reported a previously undescribed congenital malformation of the heart. This consisted of an almost total absence of the myocardium of the right ventricle. In the same year, Castleman and Towne (1952) described the case of a woman with a paper-thin right ventricle the volume of which was estimated to be 5 times that of the left ventricle. In both instances, the predominant feature was the very thin-walled and enlarged right ventricle; this was unlike the case previously reported by Osler as 'parchment heart' in which both ventricles were found to be extremely thin (Segall, 1950). Few additional cases have since come to light (Taussig, 1960; Arcilla and Gasul, 1961; Reeve and Macdonald, 1964; Cumming et al., 1965; Neimann et al., 1965; Perrin and Mehrizi, 1965; Froment et al., 1968; Kinare et al., 1969; Aherne, 1973; C6t6 et al., 1973; Perez Diaz et al., 1973; French Received for publication 4 August 1978

et al., 1975; Haworth et al., 1975) and we wish to present another patient with this rare condition.

Case report A 19-year-old Maltese man was admitted for cardiac investigation. He was the youngest of a family of 9, all of whom were healthy. At the time of pregnancy his mother was aged 40. Both pregnancy and parturition were uneventful. At 1 week he was cyanosed particularly on crying. At the age of 9 years he was more cyanosed, clubbed, and of a gracile build. The heart was 'quiet' to palpation and pulmonary closure was delayed. The haemoglobin was 15-4 g/dl. He grew to adult size, enjoying normal schooling and playing football until the age of 15 years. From then onwards he complained of dyspnoea and tiredness on exertion. He suffered from occasional chest pains and lost consciousness three times during physical effort. His haemoglobin had risen to 17 5 g/dl and ectopic rhythm

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Fig. 5 A section of the free wall of the right ventricle showing (from left to right) pericardium and fatty epicardial tissue with areas of operative haemorrhage and several thick-walled blood vessels. This is in direct contact with the thickened endocardium with no intervening muscular layer. The muscle bundles visible to the extreme right of the picture are hypertrophied endocardial smooth muscle and are not myocardialfibres.

680

R. J. Vecht, D. J. S. Carmichael, R. Gopal, and G. Philip

and were inserted into a fibrous and muscular ring 15 cm in circumference. Just below this, the right ventricle decreased abruptly in thickness and the greater part of its free wall measured only 2 mm in thickness, though the areas adjacent to the interventricular septum were thicker. The right ventricular cavity was enormously dilated (11 x 8 x 7 cm) and was lined by thickened endocardium (Fig. 4). Its cavity was crossed by a moderator band and several narrower bands of fibrous tissue, but no mural thrombus was present. The pulmonary valve was normal. The chambers and valves of the left side of the heart were normal and the coronary arteries were normal in size and position, with the right coronary artery slightly smaller than the left. The sutures were all intact. Microscopy of the free wall of the right ventricle showed cardiac muscle to be limited to small areas close to the interventricular septum and the tricuspid valve. The thin membrane which surrounded the greater part of the chamber contained no striated muscle and from within outwards consisted of (i) endothelium, (ii) a thickened fibrous endocardium containing numerous bundles of hypertrophied smooth muscle cells and an increase in elastic tissue, (iii) fatty epicardial tissue, and (iv) visceral pericardium (Fig. 5). The epicardial layer contained prominent thick-walled blood vessels. Sections from the right atrium showed hypertrophy of the myocardium (Fig. 6) but no alteration in the endocardium. Sections from the left heart showed no special features. The endocardial changes were of the type associated with long-standing cardiac dilatation (Fisher and Davies, 1958). The muscular thickening of the epicardial vessels can probably be attributed to the same cause since similar vessels have been described in the adventitial layer of thoracic aortic aneurysms (Pomerance et al., 1977). Discussion

Fig. 6 A section through the tricuspid valve ring showing the greatly hypertrophied right atrium (RA) above and the thin right ventricular wall (R V) below. The tricuspid valve (TV) is normally sited.

closed. The right atrium was a large chamber 6 x 5 cm) with a hypertrophied and trabeculated wall which measured up to 5 mm in thickness. The tricuspid valve leaflets were normally positioned was

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Uhl's anomaly is rarely encountered and should not be confused with isolated right ventricular hypoplasia (Sackner et al., 1961; Van der Hauwaert and Michaelson, 1971; Haworth et al., 1975). Common to all cases of Uhl's anomaly described is the extremely thin and enlarged right ventricular wall which contains little if any myocardium. This is in contrast with the small right ventricular cavity and normal wall thickness found in cases of right ventricular hypoplasia. From the Table reviewing the published cases of Uhl's anomaly it can be seen that the sex incidence was equal and that ages at presentation ranged from 1 day to 57 years. Of the 18 cases reviewed here cyanosis was noticeable in

681

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Year of Agel Presenting publication sex features

hil

1952

7/12 Tachypnoea

Other signs

Cyanosis,

1952

aussig

1960

rcilla and Gasul eeve and Macdonald

1961 1964

ummning et al.

1965

eimann et al.

1965

!rrin and Mebrizi

1965

ould et al.

1967

roment et al.

1968 ,,

1969

herne

1973

ote et al.

1973

Thin,

Large

N

N

None

None

Yes

large thrombus Thin, Large large Thin thrombus

N

N

None

None

Yes

Normal size

N

N

ASD

Pott's, later closed

Yes

Large ?

FO

None

Yes

Large Large paper-thin Large Large

N

N

FO

None

Yes

Large

Large

N

N

FO

Glenn

Yes

Large thin

Large

LVH N

ASD

None

Yes

Large Large paper-thin Thin

N

N

None

None

Yes

N Large paper-thin

LVH N

None

None

Yes

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Large N 2 cusps

N

None

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Large ? 2 cusps

?

?

None

Large

N

N

None

Exploratory

Large

N

N

None

None

Large thin

N

N

ASD

None

erez Diaz et al.

1973

Large thin

Large

N

N

None

None

Large

Large

Large ?

ASD

ASD closed

Large

?

?

FO

None

N

N

ASD

ASD closed

5y F 7/52 F 19h F

Dyspnoea

Yes

4/12

Dyspnoea

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4 days Cyanosis, cardiomegaly, not known hepatomegaly 19y Cyanosis, cardiomegaly postop

Yes

Large thin

Yes

Large Large paper-thin

M

rench et al.

1975

laworth et ai.

1975

14y F

Diminished exercise tolerance, AV dissociation, nodal rhythm

Id M

lecht et al.

Large

Yes

Tachypnoca

present

19y

report

M

Dyspnoea, chest pain, ectopics

Surgery

Yes

Cardiomegaly 26y arrhythmia

Oedema

Coronary ASD/ arteries FO

mortem

VT

26y

LV

8/12

CCF oedema, cardiomegaly Raised JVP, 24y Dyspnoea, 25y CCF F ectopic beats, oedema, atrial flutter, cardiomegaly AV block, chest pain 6y Dyspnoea, CCF, 6y M reduced cyanosis, postop exercise cardiomegaly, tolerance 1° AV block 5/12 Tachypnoea Cardiomegaly 12/12 M CCF 47y Dyspnoea, Cyanosis, 47y F SVT, cardiomegaly subarachnoid chest pain haemorrhage 7/12 Dyspnoea Cyanosis, 7/12 F cardiomegaly postop 5d 4d Tachypnoea Cyanosis, F cardiomegaly, hypothermia hepatomegaly 10/12 Oedema Cyanosis, 13/12 raised JVP, CCF M cardiomegaly 57y Chest pain Hepatomegaly, 66y M no cardioleukaemia, renal failure megaly 19y Dyspnoea Cardiomegaly 19y M postop M

.inare et al.

RA

Post

F

istleman and Towne

RV

Age and cause of death

Yes Yes

Yes -

{V, right ventricle; RA, right atrium; LV, left ventricle; ASD, atrial septal defect; FO, foramen ovale; CCF, congestive cardiac failure; N, normal; JVP, ugular venous pressure; SVT, supraventricular tachycardia; LVH, left ventricular hypertrophy; VT, ventricular tachycardia.

12 cases. Four patients had patent foramen ovales and 5 others had atrial septal defects. In some cases cyanosis was present without an obvious intracardiac shunt. Right ventricular thrombus was found in 4 cases and arrhythmias were described in 6 patients. Four patients complained of chest pain and effort syncope was encountered in 2 cases. Non-specific systolic

frequently audible. Seventeen of the patients succumbed and only 1 survived operation (closure of atrial septal defect). Electrocardiography characteristically showed large P waves in lead IIT with diminished right ventricular potentials. Chest radiography invariably demonstrated an enlarged cardiac shadow. Specific echocardiographic features consisted of an enlarged

murmurs were

682

R. J. Vecht, D. J7. S. Carmichael, R. Gopal, and G. Philip

right ventricular cavity, delayed tricuspid valve closure, and diastolic pulmonary valve opening, allowing differentiation from Ebstein's anomaly which closely resembles this condition. Additional defects have been described in association with Uhl's anomaly. They include dysplasia of the tricuspid valve, pulmonary atresia, and persistent ductus arteriosus (Neimann et al., 1965; Cote et al., 1973; Haworth et al., 1975). These rare defects were seen infrequently. The pulmonary circulation in Uhl's anomaly is entirely maintained by right atrial contraction. This is recognisable at angiography and from the similar pressure contours seen in the right-sided chambers. The tricuspid valve is not displaced as in Ebstein's syndrome; the left ventricle and the left atrium are usually normal as are the coronary arteries. Fibroelastosis was seen in a few cases. Surgical management has included Glenn and Potts procedures with unacceptable results. It has been suggested that before operation right heart function should be assessed by temporary balloon occlusion of the defect (Van der Hauwaert and Michaelson, 1971) though this is not always possible (Haworth et al., 1975) and was not attempted in our case. Closure of an atrial septal defect may offer some benefit and was performed in our case, though death ensued after the onset of atrial fibrillation. It is assumed that this was related to the right atrial incision and we suggest that the surgical approach might be via a right ventricular incision with closure of the atrial septal defect through the tricuspid valve. Thus an atrial incision would be avoided. We wish to thank Dr E. M. M. Besterman and Mr L. L. Bromley for allowing us to study their patient. References

Aherne, W. A. (1973). Uhl's anomaly (abstract). Archives of Disease in Childhood, 48, 160. Arcilla, R. A., and Gasul, B. M. (1961). Congenital aplasia or marked hypoplasia of the myocardium of the right ventricle (Uhl's anomaly). Journal of Pediatrics, 58, 381-388. Castleman, B., and Towne, V. W. (1952). Case record of the Massachusetts General Hospital No. 38201. New England J'ournal of Medicine, 246, 785-790. Cote, M., Davignon, A., and Fouron, J. C. (1973). Congenital hypoplasia of right ventricular myocardium (Uhl's anomaly) associated with pulmonary atresia in a newborn. American J7ournal of Cardiology, 31, 658-661.

Cumming, G. R., Bowman, J. M., and Whytehead, L. (1965). Congenital aplasia of the myocardium of the right ventricle (Uhl's anomaly). American Heart_Journal, 70, 671-676. Fisher, E. R., and Davies, E. R. (1958). Observations concerning the pathogenesis of endocardial thickening. American HeartJournal, 56, 553-561. French, J. W., Baum, D., and Popp, R. J. (1975). Echocardiographic findings in Uhl's anomaly. Demonstration of diastolic pulmonary valve opening. American Journal of Cardiology, 36, 349-353. Froment, R., Perrin, A., Loire, R., and Dalloz, C. J. (1968). Ventricule droit papyrac du jeune adulte par dystrophie congenitale. Archives des Maladies du Coeur et des Vaisseaux, 61,477-503. Gould, L., Guttman, A. B., Carrasco, J., and Lyon, A. F. (1967). Partial absence of right ventricular musculature. A congenital lesion. American Journal of Medicine, 42, 636-641. Haworth, S. G., Shinebourne, E. A., and Miller, G. A. H. (1975). Right to left interatrial shunting with normal right ventricular pressure. British Heart Journal, 37, 386-391. Kinare, S. G., Panday, S. R., and Deshmukh, S. M. (1969). Congenital aplasia of the right ventricular myocardium (Uhl's anomaly). Diseases of the Chest, 55, 429-431. Neimann, N., Pernot, C., and Rauber, G. (1965). Aplasie du myocarde du ventricule droit (venrricule droit papyrace cong6nitale). Archives des Maladies du Coeur et des Vaisseaux, 58,421-430. Perez Diaz, L., Quero Jimenez, M., Moreno Granados, F., Perez Martinez, V., and MerinoBatres, G. (1973). Congenital absence of myocardium of right ventricle: Uhl's anomaly. British Heart Journal, 35, 570-572. Perrin, E. V., and Mehrizi, A. (1965). Isolated free wall hypoplasia of the right ventricle. American J7ournal of Diseases of Children, 109, 558-566. Pomerance, A., Yacoub, M. H., and Gula, G. (1977). The surgical pathology of thoracic aortic aneurysms. Histopathology, 1, 257. Reeve, R., and Macdonald, D. (1964). Partial absence of the right ventricular musculature-partial parchment heart. American Journal of Cardiology, 14, 415-419. Sackner, M. A., Robinson, M. J., Jamison, W. L., and Lewis, D. H. (1961). Isolated right ventricular hypoplasia with atrial septal defect or patent foramen ovale. Circulation, 24, 1388. Segall, H. N. (1950). Parchment heart (Osler). American HeartJournal, 40, 948-950. Taussig, H. (1960). Congenital Malformation of the Heart: II, Specific Malformations, pp. 138-145. Commonwealth Fund, Harvard University Press, Cambridge, Massachusetts. Uhl, H. S. M. (1952). Previously undescribed congenital malformation of the heart: almost total absence of the myocardium of the right ventricle. Bulletin of the J3ohns Hopkins Hospital, 91, 197-205. Van der Hauwaert, L. G., and Michaelson, M. (1971).

Isolatedrightventricularhypoplasia.Circulation,44,466-474.

Requests for reprints to Dr R. J. Vecht, Cardiac Department, St Mary's Hospital, Praed Street, London W2 iNY.

Uhl's anomaly.

British Heart_Journal, 1979, 41, 676-682 Uhl's anomaly R. J. VECHT, D. J. S. CARMICHAEL, R. GOPAL, AND G. PHILIP From the Departments of Cardiology a...
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